A Novel Heterozygous Desmoplakin Variant Causes Cardiocutaneous Syndrome with Arrhythmogenic Cardiomyopathy and Palmoplantar Keratosis.

Content Provider	Europe PMC
Author	Çimen, Tolga Medeiros-Domingo, Argelia Kolios, Antonios Akdiş, Deniz Anwer, Shehab Tanner, Felix C. Brunckhorst, Corinna Duru, Firat Saguner, Ardan M.
Editor	Silverio, Angelo Bellino, Michele Citro, Rodolfo
Copyright Year	2023
Abstract	Cardiocutaneous syndrome (CCS) is often caused by genetic variants in desmoplakin (DSP) in the presence of thick calluses on the hands and soles of the feet (palmoplantar keratoderma) in combination with arrhythmogenic cardiomyopathy. In this case report, we describe a 58-year-old man presenting with a history of cardiomyopathy with recurrent sustained ventricular tachycardia and palmoplantar keratosis. The cardiological evaluation showed biventricular cardiomyopathy, and repeated genetic testing identified a novel DSP variant. Repeated genetic testingis clinically meaningful in patients with a high probability of a specific inherited cardiac disease, such as CCS, particularly if molecular screening has been performed in the pre-NGS era with an incomplete NGS panel or outdated technology as presented in this case report.
Journal	Journal of Clinical Medicine [J Clin Med]
Volume Number	12
DOI	10.3390/jcm12030913
PubMed Central reference number	PMC9917917
Issue Number	3
PubMed reference number	36769561
e-ISSN	20770383
Language	English
Publisher	Molecular Diversity Preservation International (MDPI)
Publisher Date	2023-01-24
Access Restriction	Open
Subject Keyword	desmoplakin arrhythmogenic cardiomyopathy cardiocutaneous syndrome repeat genetic testing
Content Type	Text
Resource Type	Case study
Subject	Medicine